title: Autosomal-dominant locus for Restless Legs Syndrome in French-Canadians on chromosome 16p12.1.
abstract: We describe an autosomal-dominant locus for Restless Legs Syndrome (RLS) in a French-Canadian (FC) pedigree. Genome-wide microsatellite scan and linkage analysis were used in this study. The locus maps to chromosome 16p12.1 and spans 1.18 Mega bases. The maximum multipoint LOD scores are of 3.5 over the total of 10 markers. Evidence for the same locus was also found in a smaller FC pedigree sime095. The analysis of the sequence of 8 annotated genes within the region did not reveal any pathogenic mutations. Copy number variation and karyotype analyses did not reveal any chromosomal abnormality in the region. Further analyses of the region are necessary to find the genetic cause of RLS in this family.
authors.affiliation: Center of Excellence in Neuromics, CHUM Research Center-Notre Dame Hospital, Quebec, Canada.
authors.forename: Anastasia
authors.initials: A
authors.lastname: Levchenko
authors.forename: Jacques-Yves
authors.initials: JY
authors.lastname: Montplaisir
authors.forename: Géraldine
authors.initials: G
authors.lastname: Asselin
authors.forename: Sylvie
authors.initials: S
authors.lastname: Provost
authors.forename: Simon L
authors.initials: SL
authors.lastname: Girard
authors.forename: Lan
authors.initials: L
authors.lastname: Xiong
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Lemyre
authors.forename: Judith
authors.initials: J
authors.lastname: St-Onge
authors.forename: Pascale
authors.initials: P
authors.lastname: Thibodeau
authors.forename: Alex
authors.initials: A
authors.lastname: Desautels
authors.forename: Gustavo
authors.initials: G
authors.lastname: Turecki
authors.forename: Claudia
authors.initials: C
authors.lastname: Gaspar
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Dubé
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D005602:France / Q000208:ethnology; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010292:Paresthesia / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics; D011792:Quebec / Q000453:epidemiology; D012148:Restless Legs Syndrome / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult